hemophilia review

THE AIM OF THE STUDY: To highlight the risks associated with pregnancy at women with von Willebrand´s disease or hemophilia. Introduce the rules of multidisciplinary prenatal and peripartal care to minimalize these risks. The article is accompanied by case report where maladministration led to fatal consequences for the newborn. DESIGN: Review and case report.Seatings: Department Obstetric and Gynecology UJEP and Masaryk´s Hospital Ústí n/Labem, Institute Haematology and Blood Transfer Prague, Children´s Haemato-onkology Clinic University Hospital Prague Motol...

The immune response to infused factor concentrates remains a major source of morbidity and mortality in the treatment of patients with hemophilia A and B. This review focuses on current treatment options and novel therapies currently in clinical trials. After a brief review of immune tolerance regimens, the focus of the discussion is on preventing bleeding in patients with hemophilia and inhibitors. Recombinant factor VIIa and activated prothrombin complex concentrates are the mainstays in treating bleeds in patients with inhibitors...

BACKGROUND: Visceral venous aneurysms are exceedingly rare, and until now, there have been no reports of this phenomenon in the adrenal vasculature. This report details the first adrenal venous aneurysm reported in the literature. The aneurysm presented as an 18-cm mass that was initially suspected to be a hematoma or tumor on the basis of the complex medical history of the patient, which included hemophilia A and testicular cancer. After surgical excision, pathologic examination confirmed this mass to be a 15...

The field of adeno-associated virus (AAV) gene therapy has progressed rapidly over the past decade, with the advent of novel capsid serotypes, organ-specific promoters and an increasing understanding of the immune response to AAV administration. Liver-directed therapy, in particular, has made remarkable strides with a number of clinical trials currently planned and on-going in hemophilia A and B, as well as other liver disorders. This review focuses on liver-directed AAV gene therapy, including historic context, current challenges, and future developments...

Hemophilia is a congenital clotting factor deficiency characterized by spontaneous and trauma-related bleeding. Spontaneous bleeding shows a predilection for joints, and repeated hemarthroses lead to a disabling condition called hemophilic arthropathy. Treatment of this condition consists of preventing joint bleeding on the one hand and orthopedic surgery as a last resort on the other. Up till now, there is no disease modifying therapy available to fill the gap between these extremes. This review provides an overview of the pathogenesis of hemophilic arthropathy in order to identify potential targets for therapy...

PURPOSE: Recurrent spontaneous hemarthrosis is an infrequent but debilitating late complication of joint replacement, affecting up to 1.6% of patients with arthroplasty of the affected joint. Repeated episodes of bleeding result in an inflammatory cascade that further propagates bleeding events. Open and arthroscopic synovectomy are often performed when conservative treatments fail. Transarterial embolization is increasingly utilized as a less invasive option; however, its role is not widely established...

Surgery in patients with congenital or acquired coagulation defects has always been challenging and requires special care with a multidisciplinary approach. Percutaneous nephrolithotomy (PCNL) is a standard procedure performed in patients with kidney stones. Although prone to bleeding more than most of the widely performed surgical procedures, there are not much data regarding PCNL in patients with bleeding disorders or coagulation defects. There are only case reports or series with a small number of patients for the patients with common coagulation defects, including hemophilias...

Hemophilia A is a hemorrhagic trend almost exclusively affecting males (X-related recessive disease). In 85% of cases, it is caused by factor VIII deficiency, called hemophilia A or classic hemophilia. Successful anesthetic management depends on the special care and a multidisciplinary team of health professionals informed about the disease, including qualified hematologist, surgeon, and anesthesiologist.

The event of mutations in the surface antigen gene of hepatitis B virus (HBV) results in undetectable hepatitis B surface antigen with positive/negative anti-hepatitis B core (anti-HBc) antibody status in serum and this phenomenon is named occult hepatitis B infection (OBI). The presence of anti-HBc antibody in serum is an important key for OBI tracking, although about 20% of OBI cases are negative for anti-HBc antibody. The diagnosis of OBI is mainly based on polymerase chain reaction (PCR) and real-time PCR assays...

Thanks to considerable progresses made over the last 30years, hemophilia benefits from the most efficacious and safe treatment among the many monogenic inherited disorders. The most challenging complication of replacement therapy in hemophilia A is the occurrence of alloantibodies against infused factor VIII (FVIII), thus predisposing the patients to increased morbidity and disability. Extensive research in this field has definitively unraveled that development of inhibitors in hemophilia A is a complex and multifactorial process, in which inherited and environmental factors dynamically interact...

Intracranial hemorrhage (ICH) is the most serious bleeding event that occurs in patients with hemophilia; its estimated mortality rate is approximately 20 %, accounting for the largest number of deaths from bleeding. We conducted this single-center, retrospective study to examine the characteristics of and prognostic factors in patients with hemophilia. A comprehensive review of 12 cases of intracranial hemorrhage (ICH) among 10 patients. All 12 cases of ICH in the 10 patients were treated with clotting factor concentrates...

Prophylactic factor replacement is the standard of care for all people with severe hemophilia to prevent bleeding and associated complications. Current weight-based fixed dose prophylaxis regimens are effective; however, they lack flexibility and usually fail to meet the individual needs and expectations of the patients. Recent developments in hemophilia treatment provide new opportunities for a more personalized prophylaxis. Areas covered: Rationale and methods of individualizing prophylaxis in hemophilia A on the basis of current evidence are discussed in this review...

This review summarizes the evidence that collagen IV binding is physiologically important, and that the extravascular compartment of FIX is composed of type IV collagen. As we have previously demonstrated, 7 days post-infusion, FIXWT (BeneFIX) is able to control bleeding as well as the same dosage of Alprolix in hemophilia B mice, tested using the saphenous vein bleeding model (Alprolix is a chimeric FIX molecule joined at its C terminus to a Fc domain). Furthermore, we have shown that in hemophilia B mice, doses of BeneFIX or Alprolix (up to a dose of 150 IU/kg) have increased bleeding-control effectiveness in proportion to the dose up to a certain limit: higher doses are no more effective than the 150 IU/kg dose...

As life expectancy greatly increases in persons with hemophilia (PWH), more age-related diseases such as cancer and cardiovascular disease (CVD) emerge among this patient group. The aim of this study was to review the available evidence on the epidemiology of CVD events, and incidence and survival of cancer in PWH. The prevalence of CVD events among PWH seems to be similar to that of the general population. Some known risk factors for the event, including aging, hypertension, and hyperlipidemia, are also associated with its occurrence in PWH...

Preimplantation genetic diagnosis (PGD) is a powerful tool to tackle the transmission of monogenic inherited disorders in families carrying the diseases from generation to generation. It currently remains a challenging task, despite PGD having been developed over 25 years ago. The major difficulty is it does not have an easy and general formula for all mutations. Different gene locus needs individualized, customized design to make the diagnosis accurate enough to be applied on PGD, in which the quantity of DNA is scanty, whereas timely laboratory diagnosis is mandatory if fresh embryo transfer is desired occasionally...

Hemophilia is the most well-known hereditary bleeding disorder, with an incidence of one in every 5000 to 30,000 males worldwide. The disease is treated by infusion of protein products on demand and as prophylaxis. Although these therapies have been very successful, some challenging and unresolved tasks remain, such as reducing bleeding rates, presence of target joints and/or established joint damage, eliminating the development of inhibitors, and increasing the success rate of immune-tolerance induction (ITI)...

Hemophilia will be encountered in the oral and maxillofacial surgeon's office. A thorough understanding of hemophilia is necessary to safely care for these patients. One must understand the severity of the patient's hemophilia as well as whether or not inhibitors are present. The patient's surgical management will be influenced by these two factors. In addition to the possible need to transfuse factors or desmopressin, special care must be taken perioperatively to avoid bleeding complications. This article reviews the overall management of hemophilia A and B as well as the specific perioperative management of these patients...

Maintenance of central venous access in patients with chronic medical conditions such as short bowel syndrome demands forethought and ingenuity. We describe an innovative technique for re-utilizing central venous access sites in patients who have chronic central venous access needs. Records of patients undergoing this technique were reviewed between August 2012 and December 2015. The technique involves "cutting-down" to the sterile fibrous tunnel that naturally forms around tunneled catheters. The fibrous sheath is then isolated and controlled much as would be done for a venous "cut-down...

Integrase strand transfer inhibitors (INSTIs) have become integral antiretroviral therapy (ART) agents for treating HIV infection. We report the case of a 44-year-old male with a history of hemophilia A who developed diabetes mellitus four months after switching from abacavir, lamivudine, and efavirenz to abacavir, lamivudine, and raltegravir. Hemoglobin A1C normalized without further need for exogenous insulin after raltegravir was switched back to efavirenz. In this case report, we will review a possible mechanism for INSTI-induced hyperglycemia and/or diabetes mellitus...